Detalhe da pesquisa
1.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A
; 191(8): 2113-2131, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377026
2.
The Niemann-Pick C1 and caveolin-1 proteins interact to modulate efflux of low density lipoprotein-derived cholesterol from late endocytic compartments.
J Mol Biochem
; 3(1): 14-26, 2014 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25285302
3.
The National Niemann-Pick C1 disease database: report of clinical features and health problems.
Am J Med Genet A
; 143A(11): 1204-11, 2007 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17497724